胎儿右锁骨下动脉迷走应用单核苷酸多态性微阵列技术检查的价值

Clinical value for fetal right subclavian artery vagus by single nucleotide polymorphism array technique

目的探讨单核苷酸多态性微阵列(SNP-array)检查对胎儿右锁骨下动脉迷走(ARSA)的临床意义。方法选取2018年1月1日至2022年7月31日于该院进行产检的75例孕妇的胎儿为研究对象,所有胎儿Ⅱ~Ⅲ级彩超检查提示ARSA,且所有孕妇均在该院产前诊断中心进行羊水/脐血染色体核型分析及SNP-array检查,总结分析其染色体检查结果、临床表型及妊娠结局。结果染色体核型分析检出4例染色体结构异常,包含2例致病性变异和2例46,XN,inv(9)(p11q13),致病性变异检出率为2.67%(2/75);SNP-array检出12例异常,包含5例致病性变异(pCNVs)、2例存在杂合性缺失(LOH)、5例临床意义尚不明确(VOUS),致病性变异检出率为6.67%(5/75)。合并心脏其他结构畸形的ARSA胎儿染色体pCNVs检出率最高(33.33%),其次为孤立性ARSA胎儿(10.71%)。结论ARSA胎儿建议进行染色体SNP-array检查排除染色体微小病变。

Objective To investigate the clinical significance of single nucleotide polymorphism array(SNP-array)in the treatment of fetal aberrant right subclavian artery vagus(ARSA).Methods The fetuses of 75 pregnant women who underwent antenatal examination in Quanzhou Maternal and Child Health Hospital from January 1,2018 to July 31,2022 were selected as the study objects.All fetuses of grade Ⅱ to Ⅲ color ultrasound indicated ARSA,and all pregnant women underwent chromosome karyotype analysis of amniotic fluid/umbilical blood and SNP-array technology examination in our prenatal diagnostic center.The res ults of chromosome examination,clinical phenotype and pregnancy outcome were summarized and analyzed.R esults Chromosome karyotype analysis detected 4 cases of chromosome structural abnormalities,including 2 cases of pathogenic variation and 2 cases of 46,XN,inv(9)(p11q13),the detection rate of pathogenic variation was 2.67%(2/75).SNP-array detected 12 abnormalities,including 5 cases of pathogenic variation(pCNVs),2 cases of heterozygosity loss(LOH),and 5 cases of clinical significance unknown(VOUS).The detection rate of pathogenic variation was 6.67%(5/75).The detection rate of pCNVs in ARSA fetuses with cardiac malformations was the highest,followed by isolated ARSA fetuses.Conclusion Fetal ARSA relates closely to chromosomal lesions,and SNP-array detection is recommended to improve the detection rate.